Varaico: Literature-Extracted Genetic Variants

RYR2

1,854 papers

RefSeq Summary

This gene encodes a ryanodine receptor found in cardiac muscle sarcoplasmic reticulum. The encoded protein is one of the components of a calcium channel, composed of a tetramer of the ryanodine recept...

Pfam Domains

Ins145_P3_recaa 9–223UCSCInositol 1,4,5-trisphosphate/ryanodine receptor

MIRaa 226–406UCSCMIR domain

RYDR_ITPRaa 453–648UCSCRIH domain

SPRYaa 672–807UCSCSPRY domain

RyRaa 862–952UCSCRyR domain

RyRaa 976–1066UCSCRyR domain

Gene Aliases

HGNC Name

ryanodine receptor 2

HGNC Previous Symbol

ARVD2

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_001035.3

p.R4147S

c.12441G>T

Surrounding Variants

1 paper

NM_001035.3

p.R4147S

c.12441G>C

2 papers

NM_001035.3

p.R4147K

c.12440G>A

5 papers

NM_001035.3

p.E4146D

c.12438G>C

5 papers

NM_001035.3

p.E4146D

c.12438G>T

1 paper

NM_001035.3

p.E4146A

c.12437A>C

6 papers

NM_001035.3

p.Y4149S

c.12446A>C

3 papers

NM_001035.3

p.Y4149C

c.12446A>G

17 papers

NM_001035.3

p.E4146K

c.12436G>A

1 paper

NM_001035.3

p.I4145I

c.12435C>T

2 papers

NM_001035.3

p.R4144S

c.12430C>A

5 papers

NM_001035.3

p.R4144C

c.12430C>T

1 paper

NM_001035.3

p.K4143Q

c.12427A>C